苏格兰一座岛屿上的家族性癌症。
Familial cancer on a Scottish island.
作者信息
Hill R D
出版信息
Br Med J. 1976 Aug 14;2(6032):401-2. doi: 10.1136/bmj.2.6032.401.
Abstract
When the causes of death were determined in 18 relations of a child with Fanconi's anaemia 10 deaths were found to be due to carcinoma of various organs. Cases of osteogenic sarcoma, leukaemia, and Marfan's syndrome were also discovered among relatives. The family was from a remote community in the hebrides and there was considerable intermarriage. Suggestive evidence of heterozygosity was found by chromosome analysis.
摘要
在对一名范科尼贫血患儿的18名亲属的死因进行判定时，发现10例死亡是由各器官的癌症所致。在亲属中还发现了骨肉瘤、白血病和马方综合征的病例。这个家族来自赫布里底群岛的一个偏远社区，存在大量近亲通婚现象。通过染色体分析发现了杂合性的提示性证据。
相似文献
1
Familial cancer on a Scottish island.苏格兰一座岛屿上的家族性癌症。
Br Med J. 1976 Aug 14;2(6032):401-2. doi: 10.1136/bmj.2.6032.401.
2
Fanconi anaemia, BRCA2 and familial considerations - follow up on a previous case report.范可尼贫血、BRCA2与家族因素——对既往一例病例报告的随访
Acta Paediatr. 2010 Nov;99(11):1741-3. doi: 10.1111/j.1651-2227.2010.01929.x.
3
Genealogy of cancer in a family.
JAMA. 1979 Jan 19;241(3):259-61.
4
Exploring the roles of PALB2 at the crossroads of DNA repair and cancer.探索PALB2在DNA修复与癌症交叉领域中的作用。
Biochem J. 2014 Jun 15;460(3):331-42. doi: 10.1042/BJ20140208.
5
A new autosomal recessive anomaly mimicking Fanconi's anaemia phenotype.
Arch Dis Child. 1993 Jan;68(1):101-3. doi: 10.1136/adc.68.1.101.
6
Fanconi anaemia genes and susceptibility to cancer.范可尼贫血基因与癌症易感性
Oncogene. 2006 Sep 25;25(43):5875-84. doi: 10.1038/sj.onc.1209878.
7
Fanconi's anaemia in the genetics of neoplasia.肿瘤遗传学中的范科尼贫血
Nature. 1971 Apr 9;230(5293):370-3. doi: 10.1038/230370a0.
8
Connecting Fanconi's anaemia to breast cancer predisposition.将范科尼贫血与乳腺癌易感性联系起来。
Lancet. 2002 Nov 2;360(9343):1344-5. doi: 10.1016/S0140-6736(02)11414-0.
9
Fanconi's aplastic anemia, analysis of 18 cases.范科尼贫血：18例分析
Acta Haematol. 1980;64(3):131-5. doi: 10.1159/000207225.
10
A frameshift mutation in BRCA1 leads to hereditary breast and ovarian cancer in one part of a family and to familial pancreatic cancer in another.BRCA1基因中的移码突变在一个家族的部分成员中导致遗传性乳腺癌和卵巢癌，而在另一个家族中则导致家族性胰腺癌。
Breast Cancer Res Treat. 2018 Jan;167(1):305-307. doi: 10.1007/s10549-017-4500-5. Epub 2017 Sep 12.
引用本文的文献
1
Functional defects in the fanconi anemia pathway in pancreatic cancer cells.胰腺癌细胞中范可尼贫血途径的功能缺陷。
Am J Pathol. 2004 Aug;165(2):651-7. doi: 10.1016/S0002-9440(10)63329-9.
2
Body proportions in Fanconi anemia heterozygotes.范可尼贫血杂合子的身体比例
Indian J Pediatr. 2000 Nov;67(11):797-801. doi: 10.1007/BF02726221.
3
Spectrum of anomalies in Fanconi anaemia.范可尼贫血中的异常谱
J Med Genet. 1982 Dec;19(6):412-6. doi: 10.1136/jmg.19.6.412.
4
Genetics of neoplasia--impact of ecogenetics on oncogenesis. A review.肿瘤形成的遗传学——生态遗传学对肿瘤发生的影响。综述。
Am J Pathol. 1978 Jun;91(3):609-88.
本文引用的文献
1
The incidence of leukemia in families of patients with hypoplasia of the marrow.
Blood. 1959 Sep;14:1008-14.
2
3
Spontaneous chromosomal breakage and high incidence of leukemia in inherited disease.遗传性疾病中的自发染色体断裂和白血病高发病率。
Blood. 1971 Jan;37(1):96-112.
4
Genetic factors in the etiology of cancer.癌症病因中的遗传因素。
Cancer Res. 1965 Sep;25(8):1320-6.
5
Squamous cell carcinomas in Fanconi's anemia.
JAMA. 1971 Apr 12;216(2):325-6.
6
Fanconi's anaemia in the genetics of neoplasia.肿瘤遗传学中的范科尼贫血
Nature. 1971 Apr 9;230(5293):370-3. doi: 10.1038/230370a0.
7
Leukemia in Fanconi's anemia: cytogenetic and tumor virus susceptibility studies.
Blood. 1970 Sep;36(3):341-52.
8
Population structure of Barra (Outer Hebrides).
Ann Hum Genet. 1976 Jan;39(3):339-52. doi: 10.1111/j.1469-1809.1976.tb00139.x.
Zotero 插件